Canonical Allele Identifier: CA2580601223

Gene: SLC6A13

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.226756C>T , CM000674.2:g.226756C>T	GRCh38
NC_000012.11:g.335922C>T , CM000674.1:g.335922C>T	GRCh37
NC_000012.10:g.206183C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016615.5:c.936-242G>A MANE Select	NP_057699.2:n.936-242G>A
ENST00000343164.9:c.936-242G>A MANE Select	ENSP00000339260.4:n.936-242G>A
NM_001190997.2:c.660-242G>A	NP_001177926.1:n.660-242G>A
NM_001190997.3:c.660-242G>A	NP_001177926.1:n.660-242G>A
NM_016615.4:c.936-242G>A	NP_057699.2:n.936-242G>A
ENST00000343164.8:c.936-242G>A	ENSP00000339260.4:n.936-242G>A
ENST00000445055.6:c.660-242G>A	ENSP00000407104.2:n.660-242G>A
ENST00000542379.1:n.220-3522G>A
ENST00000542947.1:n.216G>A
XM_005253749.2:c.1002-242G>A	XP_005253806.1:n.1002-242G>A
XM_006719008.2:c.207-242G>A	XP_006719071.1:n.207-242G>A
XM_006719008.3:c.207-242G>A	XP_006719071.1:n.207-242G>A
XM_011521012.1:c.579-242G>A	XP_011519314.1:n.579-242G>A
XM_011521012.2:c.579-242G>A	XP_011519314.1:n.579-242G>A
XM_011521013.1:c.450-242G>A	XP_011519315.1:n.450-242G>A
XM_011521014.1:c.450-242G>A	XP_011519316.1:n.450-242G>A
XM_017019842.1:c.373-12G>A	XP_016875331.1:n.373-12G>A
XM_017019844.1:c.936-242G>A	XP_016875333.1:n.936-242G>A
XM_017019845.1:c.207-242G>A	XP_016875334.1:n.207-242G>A
XM_017019846.1:c.*390G>A	XP_016875335.1:n.*390G>A
XM_017019847.1:c.*46G>A	XP_016875336.1:n.*46G>A
XR_001748849.1:n.989-242G>A
XR_002957372.1:n.1061-242G>A